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10749 KIF1C

10749

KIF1C

kinesin family member 1C

protein-coding

Homo sapiens

基因描述

Type Description
Definition kinesin family member 1C

研究结论

Date Results Publications
2020-02-01 10:57:00 Whole exome sequencing identified a homozygous KIF1C variant in both patients 31413903
2019-07-13 12:33:00 The authors analyze the previously identified kinesin inhibitor binding sites and identify features of AZ82 that favor binding to one of the sites, the alpha4/alpha6 site. This selectivity can be explained by unique structural features of the KIFC1 alpha4/alpha6 binding site. 29123223
2019-07-13 11:14:00 Study demonstrates that PTPN21 activates KIF1C by binding to the stalk region. This function does not require catalytic activity of the phosphatase, and its N-terminal FERM domain alone is sufficient to stimulate the transport of KIF1C cargoes in cells as well as increasing the landing rate of KIF1C on microtubules in vitro. The cargo adapter Hook3 binds KIF1C in the same region and activates KIF1C in a similar way. 31217419
2018-10-27 10:29:00 Hereditary spastic paraplegia (HSP) patients with KIF1C mutations may present with cerebellar signs and pyramidal findings may emerge later, therefore complicated HSP should be considered in the differential diagnosis of unidentified cases with cerebellar dysfunction. 29544888
2015-12-26 12:10:00 Rab6A binding to KIF1C's motor domain represents an entirely new mode of regulation for a kinesin motor, and likely has important consequences for KIF1C's cellular functions. 25821985

名称对应

Type IDs
Synonymous LTXS1, SATX2, SAX2, SPAX2, SPG58
Gene
UniProtKB-ID: KIF1C_HUMAN
UniprotKB: O43896
UniParc: UPI0000001C26
EMBL: AB014606, CH471108, BC034993, U91329
Ensembl: ENSG00000129250
KO: hsa:10749
Nucleutide sequences
EMBL-CDS: BAA31681.2, EAW90368.1, EAW90366.1, EAW90367.1, AAC52117.1, AAH34993.1, EAW90369.1
Ensembl_TRS: ENST00000320785
Protein sequencees
Ensembl_PRO: ENSP00000320821
RefSeq: NP_006603.2, XP_005256481.1
Others
UniRef100: UniRef100_O43896
UniRef90: UniRef90_O43896
UniRef50: UniRef50_O43896
UniGene: Hs.435120
CCDS: CCDS11065.1

全选

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研究热度

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